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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center
Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2,...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893155/ https://www.ncbi.nlm.nih.gov/pubmed/24498598 http://dx.doi.org/10.1002/mgg3.2 |